April 17, 2024

First Multiome Atlas Reveals Insights into Human Brain Cell Development and Disease

Researchers from the Icahn School of Medicine at Mount Sinai and Yale University School of Medicine have successfully created the first multiome atlas of brain cell development in the human cerebral cortex. This groundbreaking study provides valuable insights into the roles of brain cells during development and disease progression.

The multiome atlas involves simultaneous analysis of multiple types of genetic information within the same biological sample. This includes the genome, transcriptome, and epigenome. By analyzing gene expression and DNA structure, the researchers were able to categorize different cell types at various stages of development in the cerebral cortex.

The data revealed specific changes in chromatin structure prior to gene expression, which is crucial for processes like neuronal formation. Additionally, the study identified regions of chromatin associated with the regulation of genes known to be important in brain development. These regulatory regions were found to be enriched with genetic signals associated with an increased risk of neuropsychiatric disorders such as schizophrenia and bipolar disorder.

According to Panos Roussos, MD, PhD, the senior author of the study, human brain development spans from embryogenesis to adulthood, making it essential to analyze the effect of risk factors across the full spectrum of development. The creation of this atlas has deepened our understanding of the regulatory mechanisms underlying brain development and disease.

The comprehensive atlas is now available online for other researchers to access, visualize, and use for their own studies. This research is part of the National Institutes of Health’s BRAIN Initiative Cell Census Network (BICCN) launched in 2017, aiming to create a detailed atlas of the human and non-human primate brain at the cell-type level.

In addition to mapping brain cell development, the researchers prioritized 152 risk genes associated with various neuropsychiatric disorders. This research goes beyond existing knowledge by identifying specific cell types and genetic loci implicated in disorders such as Tourette syndrome and obsessive-compulsive disorder. These discoveries contribute to a better understanding of the complex relationship between cell types and neuropsychiatric disorders.

Jaroslav Bendl, PhD, a co-author of the study, highlights the importance of customized therapeutic interventions targeting gene deficiencies at specific developmental stages. By doing so, further damage can be minimized, and outcomes for individuals affected by these disorders can be improved.

The research team plans to expand their study by analyzing a larger sample cohort and including different brain regions. This will provide increased resolution and a deeper understanding of the regulatory mechanisms underlying brain development and disease.

In conclusion, the first multiome atlas of brain cell development in the human cerebral cortex has shed new light on the roles of brain cells during development and disease. This valuable resource is now accessible to researchers worldwide, allowing for further exploration and advancements in the understanding of neuropsychiatric disorders.

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1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it